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T. Craig BensonAccelerating a Cure Through Prevention:
A Carrier Screening Strategy
FounderPresident and
Chief Executive Officer
“Cure Entrepreneurs”
One Girl …
Juvenile Batten Disease
Moving Forward … Taking Action
Beyond Batten Disease Foundation
To eradicate Batten disease.
MISSION:
Mission: Two Pronged Approach
1. Research and Development: Raise awareness and money to accelerate research to find a cure for Batten disease.
2. Prevention: Develop an easy and inexpensive blood test to detect the gene mutations for Batten disease, and hundreds of other rare conditions like it, that claim the lives of thousands of children each year.
Research and Development
$2.5 Million grant to Neurological Research Institute at Texas Children’s
Hospital, Houston, TX
Danielle Kerkovich, Ph.D.
Why are they orphans?
Some Statistics Batten Disease: 750 Adrenoleukodystrophy: 13,500 Hurler Syndrome: 500 Canavan Disease: 42,500 Spinal Muscular Atrophy: 45,000 Usher Syndrome: 16,000 Charcot Marie Tooth Disease: 125,000 Pompe Disease: 6,800
There are approximately 4,250 rare genetic diseases1 that affect 3 to 4% of all children.2
1. Online Mendelian Inheritance in Man 2. European Organisation for Rare Diseases
How it’s inherited
Autosomal Recessive Disorders…
You have heard of: Cystic Fibrosis Sickle Cell Anemia Tay-Sachs
Autosomal Recessive Disorders…
You probably have not heard of: Batten Gaucher Alpha-Mannosidosis Krabbe Usher Syndrome
Current State of Carrier Screening
Tests for 450+ individual devastating diseases exist and are definitive, but they are:» Prohibitively expensive ($500 - $1,300 per
person / per disease)» Not readily available» Unfamiliar to medical professionals» Not reimbursed as a screening test
Ideally, the test would be:
Inexpensive All-inclusive (450+ devastating diseases) Administered to prospective parents Widely available
Carrier Screening
The eradication of Tay-Sachs disease from the North American Ashkenazi Jewish community.
Dor Yeshorim Founded
1983
Near total disappearance of Tay-Sachs disease from the Jewish community
1999
First community-based screening program
1971
The Success Story of Carrier Screening Tests
“Tay-Sachs is the longest running, population-based program designed to prevent a lethal genetic disease. Screening has reduced the number of Tay-Sachs cases in the U.S. and Canada by 90%.”
- Genome News Network
The Success Story of Carrier Screening Tests
“The Tay-Sachs Disease experience can be viewed as a prototypic effort for public education, carrier testing, and reproductive counseling for avoiding fatal childhood disease.”
- Genetic testing 1998;2(4):271-92
BBDF and NCGR Present
: Under $500
Universal Carrier Screening Test
450+ Diseases
Carrier Screening Impact Batten Disease: Adrenoleukodystrophy: Hurler Syndrome: Canavan Disease: Spinal Muscular Atrophy: Usher Syndrome: Charcot Marie Tooth Disease: Pompe Disease:
750 13,500 500 42,500 45,000 16,000 125,000 6,800
67512,15045038,25040,50014,400 112,5006,120
Cases Prevented
Total: 225,000
Project Timeline
Christiane Diagnosis
March 28, 2008
BBDF Formed
August 22, 2008
Phase II Completed
February 28, 2009
June 20, 2008
BBDF/NCGR Phase I Project Initiated
November 15, 2008
Product launch
May 2011March 2010
Phase III Completed
Final site selection
November 1, 2010
Moore’s Law Turbocharged
$100,000
$1,000 2005 2007 2009 2010 2011
$25K
$3K$500
Cost of Catastrophic Gene
Analysis over time
?
Test Process
What we’ll deliver
Screen carriers for 450+ inherited diseases of children
One of the largest gene analysis centers in the world that will:
Become a Human Genetics branch of the National Center for Genome Resources
Apply sequencing technology to other orphan diseases: create population database
Bring these benefits to the entire world
Sustainability
450+ Diseases: Under $500
A percentage of the test proceeds will be retained to permanently fund research for treatments and cures.
Sustainability
Beyond Batten Disease Foundation
Create Universal Carrier Screening Test
Test becomes standard for prospective parents.
Prevent 450+ genetic illnesses. Profits fund
and sustain foundation.
Be a “Cure Entrepreneur”
Leverage the above
Understand your assets and network
Join and lead efforts with other constituents
SUSTAINABILITY is key … it’s a long road
Find and BECOME a leading expert
Identify opportunities, obstacles and set clear targets
T. Craig [email protected]
FounderPresident and
Chief Executive Officer
“Cure Entrepreneurs”
A Daughter's Diagnosis:((TBD))